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Journal Abstract Search

257 related items for PubMed ID: 29536651

  • 1. Neurobehavioral features in individuals with Kabuki syndrome.
    Caciolo C, Alfieri P, Piccini G, Digilio MC, Lepri FR, Tartaglia M, Menghini D, Vicari S.
    Mol Genet Genomic Med; 2018 May; 6(3):322-331. PubMed ID: 29536651
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  • 2. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
    Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH.
    Hum Mol Genet; 2015 Aug 01; 24(15):4443-53. PubMed ID: 25972376
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  • 3. Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
    Paděrová J, Holubová A, Simandlová M, Puchmajerová A, Vlčková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeříková M, Ptáková N, Drábová J, Geryk J, Maver A, Křepelová A, Macek M.
    Clin Genet; 2016 Sep 01; 90(3):230-7. PubMed ID: 26841933
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  • 4. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
    Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D.
    Genet Med; 2019 Jan 01; 21(1):233-242. PubMed ID: 29907798
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  • 5. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
    Yap CS, Jamuar SS, Lai AHM, Tan ES, Ng I, Ting TW, Tan EC.
    Gene; 2020 Mar 20; 731():144360. PubMed ID: 31935506
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  • 6. Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.
    Schott DA, Stumpel CTRM, Klaassens M.
    Am J Med Genet A; 2019 Feb 20; 179(2):219-223. PubMed ID: 30556359
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  • 8. Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases.
    Parisi L, Di Filippo T, Roccella M.
    Minerva Pediatr; 2015 Aug 20; 67(4):369-75. PubMed ID: 26129805
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  • 12. Growth charts in Kabuki syndrome 1.
    Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D.
    Am J Med Genet A; 2020 Mar 20; 182(3):446-453. PubMed ID: 31876365
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  • 13. Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
    Karagianni P, Lambropoulos V, Stergidou D, Fryssira H, Chatziioannidis I, Spyridakis I.
    Am J Med Genet A; 2016 May 20; 170A(5):1333-8. PubMed ID: 26898171
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  • 15. Congenital heart defects in molecularly proven Kabuki syndrome patients.
    Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B.
    Am J Med Genet A; 2017 Nov 20; 173(11):2912-2922. PubMed ID: 28884922
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  • 16. Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.
    Harris J, Mahone EM, Bjornsson HT.
    J Intellect Disabil Res; 2019 Jun 20; 63(6):489-497. PubMed ID: 30767315
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  • 18. Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
    Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J.
    BMC Med Genet; 2018 Feb 27; 19(1):31. PubMed ID: 29482518
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  • 19. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
    Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa'ad AH, Roehrs PA, Bernstein JA.
    J Allergy Clin Immunol; 2016 Jan 27; 137(1):179-187.e10. PubMed ID: 26194542
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  • 20. Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
    Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han le QS, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D.
    J Pediatr; 2013 Sep 27; 163(3):742-6. PubMed ID: 23535010
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